Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159588256C>G , CM000663.2:g.159588256C>G | GRCh38 |
| NC_000001.10:g.159558046C>G , CM000663.1:g.159558046C>G | GRCh37 |
| NC_000001.9:g.157824670C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001639.4:c.220C>G MANE Select | NP_001630.1:p.Gln74Glu |
| ENST00000255040.3:c.220C>G MANE Select | ENSP00000255040.2:p.Gln74Glu |
| NM_001639.3:c.220C>G | NP_001630.1:p.Gln74Glu |
| ENST00000255040.2:c.220C>G | ENSP00000255040.2:p.Gln74Glu |